Zatterale A, Calzone R, Montone E, Pagano G
Servizio di Citogenetica, Ospedale Elena d'Aosta, ASL Napoli 1.
Ann Ist Super Sanita. 1999;35(2):233-5.
The Italian Registry of Fanconi's Anaemia (RIAF) was established in 1994 at the Cytogenetics Department of the Elena d'Aosta Hospital in Naples. Its aim is to collect data regarding Italian Fanconi's anaemia (FA) patients and their relatives. Since FA is a rare disease, the Registry is expected to benefit patients, improving the knowledge of this illness from the diagnostic, clinical, therapeutical and epidemiological viewpoint, and also supporting the laboratory and clinical research on FA aetiology, pathophysiology and therapy. Moreover, the Cytogenetics Department provides diagnosis through cytogenetic tests and collects blood samples of diagnosed patients, their parents and siblings for genetic tests and research. The RIAF is participating, through its coordinator and the physicians collaborating all over Italy, to some Italian and European research projects.
意大利范可尼贫血登记处（RIAF）于1994年在那不勒斯的埃琳娜·达奥斯塔医院细胞遗传学部门成立。其目的是收集有关意大利范可尼贫血（FA）患者及其亲属的数据。由于FA是一种罕见疾病，该登记处有望使患者受益，从诊断、临床、治疗和流行病学角度提高对这种疾病的认识，同时支持关于FA病因、病理生理学和治疗的实验室及临床研究。此外，细胞遗传学部门通过细胞遗传学检测提供诊断，并收集已确诊患者及其父母和兄弟姐妹的血样用于基因检测和研究。RIAF正通过其协调员以及意大利各地合作的医生参与一些意大利和欧洲的研究项目。
